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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-30925199-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30925199&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 30925199,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000362065.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "NM_014967.5",
"protein_id": "NP_055782.3",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": "ENST00000362065.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "ENST00000362065.9",
"protein_id": "ENSP00000354497.4",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": "NM_014967.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*1086C>G",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*1086C>G",
"hgvs_p": null,
"transcript": "ENST00000565280.5",
"protein_id": "ENSP00000455573.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "ENST00000656435.1",
"protein_id": "ENSP00000499534.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "ENST00000657391.1",
"protein_id": "ENSP00000499703.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "ENST00000670849.1",
"protein_id": "ENSP00000499638.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Arg319Gly",
"transcript": "ENST00000664837.1",
"protein_id": "ENSP00000499780.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 587,
"cds_start": 955,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly",
"transcript": "XM_047432250.1",
"protein_id": "XP_047288206.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 904,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1063C>G",
"hgvs_p": "p.Arg355Gly",
"transcript": "XM_011521370.3",
"protein_id": "XP_011519672.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 623,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.1060C>G",
"hgvs_p": "p.Arg354Gly",
"transcript": "XM_024449874.2",
"protein_id": "XP_024305642.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 622,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "c.574C>G",
"hgvs_p": "p.Arg192Gly",
"transcript": "XM_017022013.2",
"protein_id": "XP_016877502.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 460,
"cds_start": 574,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.716C>G",
"hgvs_p": null,
"transcript": "ENST00000562881.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.1121C>G",
"hgvs_p": null,
"transcript": "ENST00000568145.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.2422C>G",
"hgvs_p": null,
"transcript": "ENST00000602886.2",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*89C>G",
"hgvs_p": null,
"transcript": "ENST00000654056.1",
"protein_id": "ENSP00000499726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.2516C>G",
"hgvs_p": null,
"transcript": "ENST00000655421.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.2497C>G",
"hgvs_p": null,
"transcript": "ENST00000656307.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*582C>G",
"hgvs_p": null,
"transcript": "ENST00000661974.1",
"protein_id": "ENSP00000499390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*1785C>G",
"hgvs_p": null,
"transcript": "ENST00000664070.1",
"protein_id": "ENSP00000499478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.2057C>G",
"hgvs_p": null,
"transcript": "ENST00000667837.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*987C>G",
"hgvs_p": null,
"transcript": "ENST00000670074.1",
"protein_id": "ENSP00000499252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAN1",
"gene_hgnc_id": 29170,
"hgvs_c": "n.*89C>G",
"hgvs_p": null,
"transcript": "ENST00000654056.1",
"protein_id": "ENSP00000499726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
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},
{
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},
{
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},
{
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],
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}
],
"gene_symbol": "FAN1",
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"dbsnp": "rs387907279",
"frequency_reference_population": 0.0000030981162,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000136818,
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"gnomad_exomes_ac": 2,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9462479948997498,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.726,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9305,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.314,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000362065.9",
"gene_symbol": "FAN1",
"hgnc_id": 29170,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2245C>G",
"hgvs_p": "p.Arg749Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_011521737.4",
"gene_symbol": "MTMR10",
"hgnc_id": 25999,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1549-5276G>C",
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}
],
"clinvar_disease": "FAN1-related disorder,Karyomegalic interstitial nephritis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "FAN1-related disorder|Karyomegalic interstitial nephritis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}